(Q24324759)

regulation of transcription by RNA polymerase II

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

T-box 1

1 reference

GOA release 2020-03-11

author name string

C Chieffo

1

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N Garvey

2

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W Gong

3

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B Roe

4

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G Zhang

5

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L Silver

6

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B S Emanuel

7

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M L Budarf

Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype

8

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language of work or name

English

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publication date

1 August 1997

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published in

Genomics

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volume

43

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issue

3

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page(s)

267-77

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cites work

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

The DiGeorge anomaly as a developmental field defect

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

The T protein encoded by Brachyury is a tissue-specific transcription factor

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Skeletal anomalies and deformities in patients with deletions of 22q11

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

DiGeorge syndrome and 22q11 rearrangements

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Plasticity and predetermination of mesencephalic and trunk neural crest transplanted into the region of the cardiac neural crest

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

CpG islands as gene markers in the human genome.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Conservation of the T-box gene family from Mus musculus to Caenorhabditis elegans

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

A new concept of the cellular basis of immunity

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

The spectrum of the DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Use of restriction enzymes to detect potential gene sequences in mammalian DNA.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Identification of human chromosome 9 specific genes using exon amplification

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Rapid transfer of DNA from agarose gels to nylon membranes

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

An expression-independent catalog of genes from human chromosome 22.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Neural crest cells contribute to normal aorticopulmonary septation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Familial heart disease with skeletal malformations

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021

Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4829

7 January 2021